Mutagenetix > Incidental Mutation

Incidental Mutation 'R9555:Sfxn3'

720733

Institutional Source

Beutler Lab

Gene Symbol

Sfxn3

Ensembl Gene

ENSMUSG00000025212

Gene Name

sideroflexin 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9555 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45035942-45044822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45038211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 64 (E64K)

Ref Sequence

ENSEMBL: ENSMUSP00000059419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062213] [ENSMUST00000084493] [ENSMUST00000111954] [ENSMUST00000145391] [ENSMUST00000169459]

AlphaFold

Q91V61

Predicted Effect

probably benign
Transcript: ENSMUST00000062213
AA Change: E64K

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212
AA Change: E64K

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	321	1.8e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084493
AA Change: E64K

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212
AA Change: E64K

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	230	2.5e-106	PFAM
Pfam:Mtc	225	280	2.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111954
AA Change: E64K

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212
AA Change: E64K

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	114	1.4e-48	PFAM
Pfam:Mtc	110	288	2.3e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145391

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169459

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal mitochondrial bioenergetics in isolated synaptosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,947 (GRCm39)	V259A	probably benign	Het
Abcd4	T	C	12: 84,661,949 (GRCm39)	I63V	probably benign	Het
Agps	C	A	2: 75,683,091 (GRCm39)	P139T	probably damaging	Het
B130006D01Rik	A	T	11: 95,616,956 (GRCm39)	H27L	unknown	Het
BC024139	A	G	15: 76,005,359 (GRCm39)	V501A	possibly damaging	Het
Cacul1	A	T	19: 60,533,887 (GRCm39)	Y238*	probably null	Het
Cep55	T	C	19: 38,059,592 (GRCm39)		probably null	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Ddx3y	G	T	Y: 1,265,895 (GRCm39)	D367E	probably benign	Het
Ecpas	T	A	4: 58,879,083 (GRCm39)	I69L	possibly damaging	Het
Epb41l4a	A	G	18: 34,009,966 (GRCm39)	V213A	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klrb1a	T	C	6: 128,595,427 (GRCm39)	E142G	probably damaging	Het
Lamb3	A	T	1: 193,011,113 (GRCm39)	I369F	possibly damaging	Het
Lig1	T	C	7: 13,025,400 (GRCm39)	V254A	probably benign	Het
Lrp1b	T	A	2: 40,741,693 (GRCm39)	D3192V		Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map1s	T	A	8: 71,367,236 (GRCm39)	S714T	probably benign	Het
Marchf2	A	G	17: 33,922,129 (GRCm39)	L77P	probably damaging	Het
Nek8	A	G	11: 78,067,390 (GRCm39)	F15L	probably benign	Het
Or1s2	T	A	19: 13,758,360 (GRCm39)	I126N	probably damaging	Het
Pdzrn4	C	T	15: 92,297,703 (GRCm39)	R223C	probably damaging	Het
Per1	T	A	11: 68,995,574 (GRCm39)	V718D	probably benign	Het
Pik3ca	A	G	3: 32,505,916 (GRCm39)	H676R	probably damaging	Het
Pla2g4e	C	A	2: 120,075,400 (GRCm39)		probably benign	Het
Proser1	A	T	3: 53,378,876 (GRCm39)	I103F	possibly damaging	Het
Pyroxd1	G	A	6: 142,300,421 (GRCm39)	A184T	possibly damaging	Het
Rin2	C	T	2: 145,718,415 (GRCm39)	Q632*	probably null	Het
Serpinb12	C	T	1: 106,884,345 (GRCm39)	H364Y	probably damaging	Het
Slc38a1	C	T	15: 96,486,860 (GRCm39)	V199M	possibly damaging	Het
Tep1	A	G	14: 51,105,888 (GRCm39)	I44T	possibly damaging	Het
Trip13	T	A	13: 74,084,252 (GRCm39)	T78S	probably benign	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Usp28	A	T	9: 48,952,736 (GRCm39)	I1015F	probably damaging	Het
Vcan	T	C	13: 89,839,659 (GRCm39)	T1962A		Het
Vmn2r100	T	A	17: 19,743,857 (GRCm39)	S507T	probably benign	Het
Vmn2r91	C	T	17: 18,325,792 (GRCm39)	P137S	possibly damaging	Het
Zfp84	G	T	7: 29,476,102 (GRCm39)	V265F	probably damaging	Het

Other mutations in Sfxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
basilica	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
pew	UTSW	19	45,038,254 (GRCm39)	missense	probably damaging	1.00
R4652:Sfxn3	UTSW	19	45,039,313 (GRCm39)	critical splice acceptor site	probably null
R4889:Sfxn3	UTSW	19	45,038,254 (GRCm39)	missense	probably damaging	1.00
R6649:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6650:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6651:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6652:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6653:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R7341:Sfxn3	UTSW	19	45,037,701 (GRCm39)	missense	probably benign	0.01
R9110:Sfxn3	UTSW	19	45,038,727 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAAGACGCTCTGACATCC -3'
(R):5'- GACTTATAGTCACCCAGGCATG -3'

Sequencing Primer
(F):5'- ACGCTCTGACATCCCCAGG -3'
(R):5'- ATAGTCACCCAGGCATGCTCTG -3'

Posted On

2022-08-09